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ACATCACTGAATGGACGTGTACTGG[G/T]GCAAGAAGAGTCACAGAATAAAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616979 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DTHD1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DTHD1 - death domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136536.4 | 773 | Intron | NP_001130008.2 | |||
NM_001170700.2 | 773 | Missense Mutation | GGG,GTG | G,V 78 | NP_001164171.1 | |
XM_006714014.3 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_006714077.1 | |
XM_011513693.2 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_011511995.1 | |
XM_011513694.2 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_011511996.1 | |
XM_011513695.2 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_011511997.1 | |
XM_011513696.2 | 773 | Intron | XP_011511998.1 | |||
XM_017008191.1 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_016863680.1 | |
XM_017008192.1 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_016863681.1 | |
XM_017008193.1 | 773 | Missense Mutation | GGG,GTG | G,V 203 | XP_016863682.1 |